Wu Xue-qing, Xu Su-ming, Liu Jun-fen, Bi Xing-yu, Wu Yuan-xia, Liu Jing
Center of Reproductive Medicine, Shanxi Women and Children Health Hospital, No. 13, Xin Min Bei Jie, Xinghualing District, 030013, Taiyuan, Shanxi, China,
J Assist Reprod Genet. 2014 Mar;31(3):371-7. doi: 10.1007/s10815-013-0166-z. Epub 2014 Jan 5.
Polycystic ovary syndrome (PCOS) is a common endocrine disorder disease among women in reproductive-age. Since follicle stimulating hormone (FSH) exerts important biological functions, the association between PCOS and FSH receptor (FSHR) polymorphisms attracts wide attention. The aim of this study was to evaluate whether polymorphisms of FSHR at 307 and 680 codons are associated with PCOS patients in China.
Patients with PCOS (n = 215) and controls (n = 205) were recruited from Shanxi Province in north China. They are Han ethnics. Genomic DNA was isolated from the venous blood. The Ala307Thr and Ser680Asn polymorphisms of FSHR were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing.
The distributions of genotype and allele of Ala307Thr and Ser680Asn polymorphisms of FSHR were not statistically different between the PCOS patients and the controls. Analysis of the frequency of FSHR polymorphisms showed no statistical difference among the PCOS patients with different obesity standards. Although there were no statistical differences in the most of the endocrine parameters including LH, LH/FSH, E2, P and T as well as the clinical pregnancy rate, there were significant differences in the levels of FSH and PRL among PCOS patients carrying different genotypes of Ala307Thr and Ser680Asn polymorphisms.
The Ala307Thr and Ser680Asn polymorphisms of FSHR are not associated with PCOS in Han ethnic Chinese women in north China. The FSHR polymorphisms was related to the levels of FSH and PRL but not other PCOS-associated endocrine hormones as well as clinical pregnancy rate in PCOS patients of Han Chinese ethnical population.
多囊卵巢综合征（PCOS）是育龄期女性常见的内分泌紊乱疾病。由于卵泡刺激素（FSH）发挥重要的生物学功能，PCOS与FSH受体（FSHR）基因多态性之间的关联备受关注。本研究旨在评估FSHR第307和680密码子的多态性是否与中国PCOS患者相关。
从中国北方山西省招募PCOS患者（n = 215）和对照组（n = 205）。他们均为汉族。从静脉血中分离基因组DNA。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和直接DNA测序分析FSHR的Ala307Thr和Ser680Asn多态性。
PCOS患者与对照组之间FSHR的Ala307Thr和Ser680Asn多态性的基因型和等位基因分布无统计学差异。FSHR多态性频率分析显示，不同肥胖标准的PCOS患者之间无统计学差异。尽管包括LH、LH/FSH、E2、P和T以及临床妊娠率在内的大多数内分泌参数无统计学差异，但携带不同基因型Ala307Thr和Ser680Asn多态性的PCOS患者之间FSH和PRL水平存在显著差异。
在中国北方汉族女性中，FSHR的Ala307Thr和Ser680Asn多态性与PCOS无关。FSHR多态性与汉族PCOS患者的FSH和PRL水平有关，但与其他PCOS相关内分泌激素以及临床妊娠率无关。
